Definition

Thalassemia is a blood disorder. It cuts down the amount of red blood cells and hemoglobin that the body can make. Red blood cells carry oxygen to all the organs in the body. Hemoglobin is a part of red blood cells that help grab oxygen at the lungs. Low levels of red blood cells and hemoglobin can lead to
anemia. Anemia interferes with normal bodily functions.

Hemoglobin

Thalassemias are split into two main categories. The categories are based on the part of hemoglobin that is affected:

Alpha thalassemia—based on the alpha part of hemoglobin

Beta thalassemia—based on the beta part of hemoglobin

Causes

Thalassemia is caused by faults in specific genes. It is an inherited disorder. This means the affected person received the faulty genes from the parents. The severity of the thalassemia will depend on the number of faulty genes that a child inherits. There are four genes needed for hemoglobin, two from each parent. The number of genes that are faulty will determine the severity and subtype of thalassemia:

In
alpha thalassemia:

One abnormal gene—silent carrier, no signs of illness but can pass condition on to child

Two abnormal genes—thalassemia trait, may have mild anemia

Three abnormal genes—Hemoglobin H disease, moderate to severe anemia

Four abnormal genes—most severe form called Alpha hydrops fetalis, results in fetal or newborn death

In beta thalassemia:

One abnormal gene—Thalassemia minor, carrier with mild anemia

Two abnormal genes—Thalassemia major known as Cooleys anemia, may have moderate to severe anemia

Risk Factors

Factors that increase your chance of thalassemia include:

Certain types of thalassemia are associated with ancestors from certain parts of the world:

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done.

Blood tests will be done to measure levels of:

Hemoglobin

Red blood cells

Iron

Treatment

Treatment will be based on the type and severity of anemia. Mild forms may not need treatment. More severe forms may need:

Blood Transfusions

Blood transfusions will help provide healthy new red blood cells. The blood comes from a donor and is carefully screened before it is delivered in a transfusion.

Repeated blood transfusions can lead to high levels of iron in the blood. This can damage the heart, liver, and other vital organs. Certain medications can bind to the iron and carry it out of the body through urine.

Healthy stem cells from a donor's bone marrow are injected into your vein. The new cells travel through the blood into the bone cavities. There, they can produce new
normal
blood cells. This may be a cure in some. However, it can be hard to find a good match with a donor.

Splenectomy

Thalassemia can cause the spleen to enlarge. An enlarged spleen can make anemia worse. A splenectomy is a surgery to remove the spleen. It may help reduce the number of blood transfusions that are needed.

General Health

Complications and impact on your daily activities may be reduced by following basic healthy lifestyle tips:

Eat a well balanced diet. Your doctor may also recommend supplements like folic acid

Include regular physical activity

Take steps to prevent cold or flus. Wash your hand often. Avoid crowds in flu season. Get vaccinations as recommended.

If you have thalassemia and you are pregnant, talk to you doctor about any special steps you need to take.

Go to all medical appointments as recommended.

Prevention

This disease is inherited. Blood tests and family genetic studies will show if you are a carrier. A genetic counselor can discuss the risks of passing on the disease.

4/24/2014 DynaMed's Systematic Literature Surveillance
http://www.ebscohost.com/dynamed: Royal College of Obstetricians and Gynaecologists. Thalassaemia in pregnancy, Management of Beta (Green-top 66). Royal College of Obstetrians and Gynaecologists website. Available at: https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg66. Published March 27, 2014. Accessed September 30, 2014.

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